| umls-concept:C0406702 | skos:definition | MSH: An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.,NCI: A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations. | lld:umls |
